Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl

Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected such as the central nervous system, eyes, hair, nails and teeth. The disease has an X-linked dominant inheritance pattern. But in our case, there was a mutation in the body cells due to incontinentia pigmenti. The dermatological findings occur in four successive phases. We report the case of a 10-year-old female presented cutaneous, dental and ophthalmic characteristic with 3 years follow-up. Dental anomalies such as hypodontia, peg-shaped anterior teeth, malformed primary and permanent teeth, and delayed eruption were seen in our patient.


Introduction
Incontinentia Pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis. It is a multisystem, ectodermal and mesodermal disorder accompanied by dermatologic, dental and ocular features. In a minority of cases, it may be associated with neurologic deficit. [1][2][3][4] The mutation of NEMO (NF-kappa-B essential modulator) also known as IKK-γ/IKBKG (inhibitor of nuclear factor kappa-B kinase subunit gamma) gene which is located on chromosome Xq28, is believed to play a role in the pathogenesis of this disease. [5] NEMO/IKK-γ helps activate NF-κB, which controls the expression of multiple genes, including cytokines and chemokines, and protects cells against apoptosis. [6] A lack of NEMO/IKK-γ, therefore, causes a lack of active NF-κB, which makes cells more prone to apoptosis.
This report describes a case of IP in a girl with dermatologic, orodental, and eyes signs, as well as skin lesions.
The estimated prevalence of IP was stated to be 0.2 in 100,000 based on the data of 386 diagnosed IP patients who were reported in the available literature published during the period of 2000-2013. [7] In more than 80% of patients, dental anomalies represent the most common non-cutaneous manifestation of IP. Hypodontia, microdontia (as pegged and conically-shape teeth), delayed eruption and accessory cusps are frequently reported, and both primary and permanent dentitions may be affected. The computed tomography (CT) of the brain showed evidence of cerebral infarct which is consistent with the diagnosis of IP. The early diagnosis of IP and subsequent assessment of medical factors can impact on the long-term prognosis of each case. In the absence of ophthalmic and central nervous system involvement, the onus monitors and manages the cutaneous and dental manifestations if required. The significant absence and malformation of teeth can affect proper facial development, mastication, speech development, appearance and self-esteem in the growing child. [7] Parents should be made aware of the common occurrence of late eruption, missing teeth, and the effects on the developing dentition. It is also important to ensure the nutritional needs are being met. [8] The practice of thorough oral hygiene methods and healthy eating habits should be encouraged to help preserve the existing dentition for as long as possible.

Discussion
IP is inherited in an X-linked dominant manner. Therefore, more than 95% of patients are female infants. [9] In males, it is usually lethal and most of the affected male fetuses result in miscarriage or stillbirth. [4] In our case, according to her genetic counseling, the IP was a result of a mutation in some of the body cells and there was no cause of X-linked dominant inheritance pattern.
IP is hereditary in 10%-25% of cases. [10] Dermatologic findings are often the first observed   Emollients and topical corticoids can be used in the first stages of the disease. Secondary bacterial infections may occur and must be treated with antibiotics. [22][23] The extracutaneous manifestation must be managed by a multidisciplinary team and this management varies according to the affected organ. Furthermore, genetic counseling is also important since the disorder is of autosomal dominant transmission. Therefore, in spite of the rarity of this pathology, one must be alert for early diagnosis, recognizing the typical cutaneous manifestations of each evolutionary phase of the disease, adequate genetic counseling and better management of extracutaneous manifestations when these are present. [23] In our case, a 10-year-old girl referred to the De-

Conclusion
Long-term and close cooperation between dermatologists, pediatricians, neurologists, genetic counselors, and even dentists is crucial for better understanding of IP and prediction of the occurrence of the potential anomalies that may later occur in life.

Conflict of Interest
The authors of this manuscript certify that they have no financial or other competing interest concerning this article.